Canonical Allele Identifier: CA2322227

Gene: SCN11A

Linked Data

• dbSNP Id: rs763675228
• ExAC: 3:38945483 G / C
• gnomAD v2: 3-38945483-G-C
• gnomAD v3: 3-38903992-G-C
• gnomAD v4: 3-38903992-G-C
• MyVariant Identifiers: chr3:g.38945483G>C (hg19) ; chr3:g.38903992G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38903992G>C , CM000665.2:g.38903992G>C	GRCh38
NC_000003.11:g.38945483G>C , CM000665.1:g.38945483G>C	GRCh37
NC_000003.10:g.38920487G>C	NCBI36
NG_033859.1:g.51570C>G
NG_033859.2:g.152995C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.1715C>G MANE Select	ENSP00000307599.3:p.Thr572Ser
ENST00000668754.1:c.1715C>G	ENSP00000499569.1:p.Thr572Ser
ENST00000675223.1:c.1715C>G	ENSP00000502481.1:p.Thr572Ser
ENST00000675672.1:c.1715C>G	ENSP00000502446.1:p.Thr572Ser
ENST00000675892.1:c.1535C>G	ENSP00000502318.1:p.Thr512Ser
ENST00000676045.1:c.1759C>G	ENSP00000501685.1:n.1759C>G
ENST00000676176.1:c.1715C>G	ENSP00000501891.1:p.Thr572Ser
ENST00000302328.7:c.1715C>G	ENSP00000307599.3:p.Thr572Ser
ENST00000444237.2:c.1715C>G	ENSP00000408028.2:p.Thr572Ser
ENST00000456224.7:c.1715C>G	ENSP00000416757.3:p.Thr572Ser
NM_001287223.1:c.1715C>G	NP_001274152.1:p.Thr572Ser
NM_014139.2:c.1715C>G	NP_054858.2:p.Thr572Ser
XM_011533320.1:c.1715C>G	XP_011531622.1:p.Thr572Ser
XM_011533321.1:c.1052C>G	XP_011531623.1:p.Thr351Ser
XM_011533322.1:c.263C>G	XP_011531624.1:p.Thr88Ser
NM_001349253.1:c.1715C>G	NP_001336182.1:p.Thr572Ser
XM_011533321.2:c.1052C>G	XP_011531623.1:p.Thr351Ser
XM_017005647.1:c.2090C>G	XP_016861136.1:p.Thr697Ser
XM_017005648.1:c.1517C>G	XP_016861137.1:p.Thr506Ser
XM_017005650.1:c.1715C>G	XP_016861139.1:p.Thr572Ser
XM_017005651.1:c.1442C>G	XP_016861140.1:p.Thr481Ser
XM_017005652.1:c.1715C>G	XP_016861141.1:p.Thr572Ser
XM_017005653.1:c.119C>G	XP_016861142.1:p.Thr40Ser
NM_001349253.2:c.1715C>G MANE Select	NP_001336182.1:p.Thr572Ser
NM_014139.3:c.1715C>G	NP_054858.2:p.Thr572Ser